6 Terms
Home > Industry/Domain > Health care > Genetic disorders
Genetic disorders
Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.
Industry: Health care
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Genetic disorders
allele-specific oligonucleotide (ASO) testing
Health care; Genetic disorders
The detection of a specific mutation using a synthetic segment of DNA approximately 20 base pairs in length (an oligonucleotide) that binds to and hence identifies the complementary sequence in a DNA ...
protein functional assay
Health care; Genetic disorders
Measurement of the rate of a chemical reaction that takes place in the presence of an enzyme contained in a sample taken from an individual. Reduced enzymatic activity may indicate carrier status or ...
inanition
Health care; Genetic disorders
The exhausted condition that results from lack of food and water.
prelingual
Health care; Genetic disorders
Occurring before an individual has developed the use of language (prelingual deafness).
localize
Health care; Genetic disorders
Determination of the original position (locus) of a gene or other marker on a chromosome.
skin callus
Health care; Genetic disorders
Localized hyperplasia of the horny layer of the epidermis due to pressure or friction.
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